<b><i>Dataset of </i></b><b><i>‘</i></b><b>Identification of nonsense variants in the genomes of 15 Murciano-Granadina bucks and analysis of their segregation in parent-offspring trios</b><b><i>’</i></b>
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Nonsense variants cause the premature truncation of proteins, which might lead to protein inactivation, disease and even embryo lethality and abortions. Here, we have characterized the genomic landscape of nonsense variants in goats by sequencing the genomes of 15 bucks. Moreover, we have genotyped 17 variants predicted to have harmful effects in parent-offspring trios. Noteworthy, several variants expected to be lethal were present in homozygous state in multiple individuals, evidencing the existence of mechanisms counteracting such effect. These findings are relevant in the context of selection for improving reproductive efficiency and in understanding the consequences of domestication.
无义变异(nonsense variant)可导致蛋白质发生提前截短,进而可能引发蛋白质失活、疾病,甚至胚胎致死与流产。本研究通过对15只公山羊的基因组进行测序,解析了山羊无义变异的基因组特征谱。此外,我们还针对17种被预测具有有害效应的变异,在亲子三联体(parent-offspring trios)中开展了基因分型工作。值得注意的是,多种被推测具有致死效应的变异在多个个体中以纯合状态(homozygous state)存在,这一现象证实了存在能够抵消此类效应的生物学机制。本研究结果对于以提升繁殖效率为目标的育种选择,以及理解驯化过程的相关后果均具有重要参考价值。



